Canonical Allele Identifier: CA338232152

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312755C>T (hg19) ; chr1:g.16986260C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986260C>T , CM000663.2:g.16986260C>T	GRCh38
NC_000001.10:g.17312755C>T , CM000663.1:g.17312755C>T	GRCh37
NC_000001.9:g.17185342C>T	NCBI36
NG_009054.1:g.30669G>A
NG_029688.1:g.327G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3504G>A MANE Select	ENSP00000327214.8:p.Glu1168=
ENST00000326735.12:c.3504G>A	ENSP00000327214.8:p.Glu1168=
ENST00000341676.9:c.3202G>A	ENSP00000341115.5:p.Ala1068Thr
ENST00000452699.5:c.3489G>A	ENSP00000413307.1:p.Glu1163=
ENST00000466561.1:n.1550G>A
ENST00000502418.1:c.922G>A	ENSP00000423065.1:p.Ala308Thr
NM_001141973.2:c.3489G>A	NP_001135445.1:p.Glu1163=
NM_001141974.2:c.3202G>A	NP_001135446.1:p.Ala1068Thr
NM_022089.3:c.3504G>A	NP_071372.1:p.Glu1168=
XM_005245809.1:c.3334G>A	XP_005245866.1:p.Ala1112Thr
XM_005245810.1:c.3331G>A	XP_005245867.1:p.Ala1111Thr
XM_005245811.1:c.3319G>A	XP_005245868.1:p.Ala1107Thr
XM_005245812.1:c.3307G>A	XP_005245869.1:p.Ala1103Thr
XM_005245813.1:c.3274G>A	XP_005245870.1:p.Ala1092Thr
XM_005245815.1:c.3217G>A	XP_005245872.1:p.Ala1073Thr
XM_006710512.1:c.3316G>A	XP_006710575.1:p.Ala1106Thr
XM_006710513.1:c.3292G>A	XP_006710576.1:p.Ala1098Thr
XM_011541128.1:c.3319G>A	XP_011539430.1:p.Ala1107Thr
XM_011541129.1:c.3127G>A	XP_011539431.1:p.Ala1043Thr
XM_017000844.1:c.3489G>A	XP_016856333.1:p.Glu1163=
XM_017000845.1:c.3486G>A	XP_016856334.1:p.Glu1162=
XM_017000846.1:c.3462G>A	XP_016856335.1:p.Glu1154=
XM_017000847.1:c.3459G>A	XP_016856336.1:p.Glu1153=
XM_017000848.1:c.3387G>A	XP_016856337.1:p.Glu1129=
XM_017000849.1:c.3372G>A	XP_016856338.1:p.Glu1124=
XM_017000850.1:c.3297G>A	XP_016856339.1:p.Glu1099=
NM_022089.4:c.3504G>A MANE Select	NP_071372.1:p.Glu1168=
NM_001141973.3:c.3489G>A	NP_001135445.1:p.Glu1163=
NM_001141974.3:c.3202G>A	NP_001135446.1:p.Ala1068Thr